Gawlik Aneta Monika, Berdej-Szczot Elzbieta, Blat Dorota, Klekotka Renata, Gawlik Tomasz, Blaszczyk Ewa, Hankus Magdalena, Malecka-Tendera Ewa
Department of Paediatrics and Paediatric Endocrinology, School of Medicine in Katowice, Medical University of Silesia, Katowice, Poland.
Department of Laboratory Diagnostics, Upper-Silesian Paediatric Health Centre, Katowice, Poland.
Front Endocrinol (Lausanne). 2018 Jun 4;9:307. doi: 10.3389/fendo.2018.00307. eCollection 2018.
The risk of autoimmune diseases (AD) in patients with Turner Syndrome (TS) is twice higher than in the general female population and four times higher than in the male population. The causes of the increased incidence of AD in TS are still under discussion. We hypothesized the presence of a specific humoral, cellular, and regulatory T cell (Treg) immunity profile which predisposes to AD, disorders of immunity, and disorders of immune regulation.
The study encompassed 37 girls with TS and with no signs of infection. The control group included 11 healthy girls with no hormonal disorders. A medical history focused on AD and immunity disorders was taken from all participants. The levels of: immunoglobulins IgG, IgA, IgM, total lymphocytes, lymphocytes subpopulations CD3+, CD4+, CD8+, CD19+, natural killer cells, Treg cells (CD4+ CD25+ CD127- FOXP3+), anti-inflammatory cytokines (interleukin-10, transforming growth factor-β), anti-nuclear antibodies, glutamic acid decarboxylase (GAD65 Abs), anti-thyroid peroxidase (anti-TPO Ab), and anti-thyroglobulin (anti-TG Ab) autoantibodies were determined in each participant.
The mean age and BMI in the TS group and in controls were comparable (11.9 ± 4.1 vs. 12.5 ± 4.0 years; 19.2 ± 3.4 vs. 19.7 ± 4.6, > 0.05). Mean hSDS was significantly higher in controls (-2.2 ± 0.9 vs. -0.4 ± 1.5, < 0.0001). AD and recurrent otitis media with complications were previously confirmed in 9 (24.3%) and 10 (27.0%) girls with TS. The TS group had significantly lower levels of IgG ( = 0.02), lower%CD4 ( < 0.001) and a significantly lower CD4:CD8 ratio than the controls ( < 0.001). There were no differences in mean Treg% between girls with TS and healthy controls. However, comparing Treg% between the TS group with coexisting autoimmunity and the remaining participants, a statistically significant difference was observed (2.09 ± 0.5 vs. 2.77 ± 1.6, = 0.048). Patients with iXq had lower CD4% and more frequently had positive anti-TPO Ab and anti-TG Ab compared to the remaining girls with TS and controls ( = 0.001, < 0.001, = 0.01).
TS predisposes to AD, especially if associated with coexisting iXq. Our preliminary findings show that patients with TS may present a specific profile of humoral and cellular immunity markers, different from healthy girls.
特纳综合征（TS）患者患自身免疫性疾病（AD）的风险比一般女性人群高两倍，比男性人群高四倍。TS中AD发病率增加的原因仍在讨论中。我们推测存在一种特定的体液、细胞和调节性T细胞（Treg）免疫谱，易导致AD、免疫紊乱和免疫调节紊乱。
该研究纳入了37名无感染迹象的TS女孩。对照组包括11名无激素紊乱的健康女孩。对所有参与者进行了聚焦于AD和免疫紊乱的病史采集。测定了每位参与者的以下指标水平：免疫球蛋白IgG、IgA、IgM、总淋巴细胞、淋巴细胞亚群CD3 +、CD4 +、CD8 +、CD19 +、自然杀伤细胞、Treg细胞（CD4 + CD25 + CD127 - FOXP3 +）、抗炎细胞因子（白细胞介素-10、转化生长因子-β）、抗核抗体、谷氨酸脱羧酶（GAD65抗体）、抗甲状腺过氧化物酶（抗-TPO抗体）和抗甲状腺球蛋白（抗-TG抗体）自身抗体。
TS组和对照组的平均年龄和BMI具有可比性（11.9 ± 4.1岁对12.5 ± 4.0岁；19.2 ± 3.4对19.7 ± 4.6，>0.05）。对照组的平均身高标准差得分（hSDS）显著更高（-2.2 ± 0.9对-0.4 ± 1.5，<0.0001）。之前已在9名（24.3%）TS女孩中确诊AD，10名（27.0%）TS女孩中确诊复发性中耳炎并伴有并发症。TS组的IgG水平显著更低（=0.02），CD4%更低（<0.001），CD4:CD8比值显著低于对照组（<0.001）。TS女孩与健康对照组之间的平均Treg%无差异。然而，比较存在自身免疫的TS组与其余参与者的Treg%，观察到统计学上的显著差异（2.09 ± 0.5对2.77 ± 1.6，=0.048）。与其余TS女孩和对照组相比，具有iXq的患者CD4%更低，抗-TPO抗体和抗-TG抗体阳性更为常见（=0.001，<0.001，=0.01）。
TS易患AD，尤其是与共存的iXq相关时。我们的初步研究结果表明，TS患者可能呈现出与健康女孩不同的体液和细胞免疫标志物特定谱。
